ea0070aep789 | Reproductive and Developmental Endocrinology | ECE2020
Fadiga Lúcia
, Saraiva Joana
, Catarino Diana
, Reis Guiomar Joana
, Alexandra Festas Silva Diana
, Lavrador Mariana
, Esteves Ferreira Sara
, do Carmo Macário Maria
, Paiva Isabel
Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...